Variant information


Systematic Name
(NM_004992.3:)		 c.784C>T
Protein name
(NP_004983)		 p.Gln262*
Alternate systematic Name
(NM_001110792.1:)		 c.820C>T
Alternate Protein name
(NP_001104262)		 p.(Gln274*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296495G>A
Mutation type nonsense
Domain TRD-NLS
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.784C>T p.Gln262* Female Rett syndrome-classical 3800 :Khajuria R, Genetics Unit, Dept. of Pedatrics, All India Institute of Medical Sciences:: View details
2 c.784C>T p.Gln262* Female Not Known 4098 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 View details